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Familial occurrence of moyamoya disease
1Department of Neurosurgery, Hokkaido University School of Medicine, Sapporo, Japan.
Abstract:
There is extensive evidence that Moyamoya disease has a tendency for multifactorial inheritance, although the pathogenesis of Moyamoya disease is not clear. The authors report five cases showing familial occurrence of Moyamoya disease and analyse its clinical characteristics. In the past 15 years, we have encountered 68 cases of Moyamoya disease. Among these, 14 cases (10 females and four males, five family pedigrees, asymptomatic 1 case) of familial occurrence were observed. In this series, mother-to-child inheritance was observed in five cases, although there were no cases showing father-to-child inheritance. Ten patients were children with an initial onset of cerebral ischemia, at a mean age of 9.7 years. One mother was asymptomatic and two mothers had a past history of cerebral ischemia. Only one patient was a 37-year-old woman with clinical onset of intracerebral hemorrhage. There were no specific clinical characteristics in familial Moyamoya disease compared with those in sporadic Moyamoya disease.
Insights
Moyamoya disease shows multifactorial inheritance tendencies. This study observed familial cases, noting mother-to-child transmission but no father-to-child cases, with similar clinical features to sporadic Moyamoya disease.
Area of Science:
- Neurology
- Genetics
- Vascular Neurology
Background:
- Moyamoya disease is characterized by progressive stenosis of the terminal portions of the internal carotid arteries.
- The exact pathogenesis remains unclear, but a tendency for multifactorial inheritance is recognized.
- Familial occurrence suggests a genetic component influencing disease development.
Observation:
- 14 of 68 Moyamoya disease cases (20.6%) exhibited familial occurrence over 15 years.
- Five family pedigrees were identified, including mother-to-child transmission in five instances.
- Pediatric onset with cerebral ischemia was common (10 cases, mean age 9.7 years); intracerebral hemorrhage was rare.
Findings:
- Familial Moyamoya disease presented without distinct clinical characteristics compared to sporadic forms.
- Mother-to-child inheritance was observed, but father-to-child transmission was not documented.
- One mother was asymptomatic, while two had prior cerebral ischemia history.
Implications:
- Understanding familial patterns aids in genetic counseling and risk assessment for Moyamoya disease.
- Further research into the genetic basis of Moyamoya disease is warranted.
- Early identification of familial risk may improve patient outcomes through timely intervention.